Cystic Fibrosis2
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  • 1. Cystic Fibrosis Eric Simkins
  • 2. Inheritance
    • Is Autosomal Recessive
      • Carried on Autosomes
      • To be affected an individual must be homozygous recessive.
      • Heterozygous individuals are carriers
        • Meaning they are not affected by the disorder, but can pass it on to their children.
  • 3. Inheritance
    • If both parents are carriers:
      • 25% chance of having a child with CF.
      • 50% chance of having a child that will be a carrier.
      • 25% chance of having a child who is not affected and is not a carrier.
  • 4.  
  • 5. Physiological Cause of Symptoms
    • The defective gene on chromosome 7 alters a protein that transports chloride ions into/out of cells.
    • Chloride Ions (Cl-) are not absorbed into cells.
    • Water is not absorbed by cells.
    • The cells produce too much mucus.
  • 6. Symptoms
    • Respiratory Problems
      • Caused by excess mucus in the respiratory tracts.
      • Coughing or wheezing
      • Recurring respiratory infections
  • 7. Symptoms
    • Digestive Problems
      • Caused by excess mucus blocking ducts leading from the pancreas to duodenum.
      • Greasy stools.
      • Clay colored stools that float.
      • Diarrhea
      • Weight loss
      • Slow growth
  • 8. Symptoms
    • Abnormally salty tasting sweat.
      • Due to excess salt in the sweat.
    • Clubbing of the fingers or toes.
      • Fingertips or toes appear rounded or expanded.
    • 90% of males with Cystic Fibrosis are sterile.
      • They have no vas deferens
  • 9. Treatments
    • Practice Airway Clearance Techniques
    • Mucolytics—inhaled drugs that thin mucus
    • Antibiotics to fight respiratory infections
    • Diet
    • Enzyme Supplements—to replace missing digestive enzymes
    • Lung Transplant
  • 10. Testing
    • Genetic Carrier Testing—for adults
    • Newborn Screening—not definitive, but recommended by the CFF.
    • Sweat Testing—if symptoms are shown.
  • 11. History
    • 17 th Century-1900’s—Stories, Songs, and Records depict people with the symptoms of CF.
    • 1938—Dr. Dorothy Anderson records the first concrete description of CR.
    • 1940’s—Dorothy Anderson and Dr. Hodges conclude it is passed by Mendelian recessive inheritance.
    • 1950’s—Sweat Test is discovered and implemented.
    • 1989—CF gene identified on chromosome 7.
  • 12. Other Info
    • 1:3,500 in the US
    • The Cystic Fibrosis Foundation
    • The Mayo Clinic CF Site
  • 13.